Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.
Liang
M H
MH
Wong
L J
LJ
Klein
D
D
Shapiro
B
B
Bowman
C M
CM
Hsu
E
E
Wong
L J
LJ
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D011647:Puerto Rico
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator